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Non-syndromic familial congenital anorectal malformations v0.68 PTEN Eleanor Williams commented on gene: PTEN: The patient described in Reardon et al 2001 (PMID:11748304) with novel heterozygous germline mutation in PTEN (H61D), in a patient with features of VATER association does NOT show anorectal malformation.
Non-syndromic familial congenital anorectal malformations PTEN Eleanor Williams commented on gene: PTEN
Non-syndromic familial congenital anorectal malformations PTEN Eleanor Williams Added gene to panel